!"#$%&""'(!"#$%&$'&()$*+&,*-$,.($*#/&(+0"#/1#2$03&$1#3&(10"#!&$.,$"$0("104$5&$!"#$1#,&($,(.6$-..71#2$"0$8&/12(&&+$93&03&($0("10+$"(&$(&!&++1'&$.($/.61#"#0$"#/$93&03&($03&)$+3.9$2&#/&(:+8&!1,1!$1#3&(10"#!&$.($&;8(&++1.#4$5&$!"#$"-+.$*+&$8&/12(&&+$0.$"++&++$03&$!3"#!&$03"0$+.6&.#&$1+$"$!"((1&($.($"$/1+&"+&$"#/<.($03"0$"$!.*8-&$1+$"0$(1+7$.,$3"'1#2$"$!31-/$9103$"$2&#&01!$/1+&"+&$1,$10$(*#+$1#$%.03$,"61-1&+4$
=*0$"$,1(+0$+0&8$1+$0.$(&!.2#1>&$8&/12(&&+$"#/$0()$0.$,1--$1#$03&$%-"#7+$,(.6$93"0$9&$7#.94$
)"&"*(+$&',*(-&"('./"('0/1.2'3(
(
4.512"(2$6"'($6#$7-,"(7.6'-6%5$6".5'(/-&&$-%"'8
I
II
III
IV
V
1 2 3 4 5 6 7 8
1 2 3 4 5 6 7 8 9
D
D
Infertility
Sperm donor
Carrier
Monozygotic twins
Dizygotic twins
Deceased
SpontaneousAbortion
Gender unknown
A!ected (female)
Una!ected (male)
95,.'./-2(#./$6-6,3(?*0.+.6"-$/.61#"#0$8&/12(&&+$"(&$,"1(-)$&"+)$0.$(&!.2#1>&4$@3&)$3"'&$+&'&("-$7&)$,&"0*(&+A(
B4 C"-&+$"#/$,&6"-&+$"(&$&D*"--)$-17&-)$0.$%&$",,&!0&/4$E4 ?,,&!0&/$.,,+8(1#2$3"'&$"0$-&"+0$.#&$",,&!0&/$8"(�$F4 G"-,$H.#$"'&("2&I$.,$8(.2&#)$,(.6$",,&!0&/$+1%+318+$"(&$",,&!0&/4$
$
J.($/.61#"#0$0("10+K$"--$!"((1&(+$+3.9$+)680.6+4$@3&(&$1+$#.031#2$0.$,1--$1#4$
$
I
II
III
IV
).:";"&*(0.5('<.52#(1"(-:-&"(,<-,(6.,(-22(,&-$,'*(";"6(#./$6-6,(.6"'*(-&"(:<-,($'(7-22"#(=+5220(>"6",&-6,=8(?<-,(/"-6'(,<-,('./"($6#$;$#5-2'(:<.('<.52#('<.:(,<"(><"6.,0>"(-77.&#$6%(,.(%"6",$7'*(/-0(6.,8(?<$'(7-6(/-@"($,(7.6+5'$6%*("8%8(1"2.:3(
(
95,.'./-2(&"7"''$;"3(
$@3&+&$"(&$&;"68-&+$.,$"*0.+.6"-$(&!&++1'&$8&/12(&&+4$@3&$0.8$.#&$1+$,.($"$("(&$"--&-&K$931-&$03&$-.9&($.#&$1+$,.($"$,"1(-)$!.66.#$0("104$
@3&$7&)$,&"0*(&+$.,$(&!&++1'&$8&/12(&&+A$B4 C<J$&D*"--)$-17&-)$0.$%&$",,&!0&/4$A8 ?,,&!0&/$1#/1'1/*"-+$*+*"--)$3"'&$*#",,&!0&/$8"(�+$"#/$'1!&$'&(+"(F4 ?'&("2&$#*6%&($.,$",,&!0&/$+1%+$1+$ELM4$
G&(&$9&$!"#$,1--$1#$+.6&$2&#.0)8&+$%"+&/$.#$8"(�+$3"'1#2$",,&!0&/$!31-/(&#$"#/$'1!&$'&(+"4$
I
II
III
IV
?
?
?
?
I
II
III
IV
V
I
II
III
IV
V
1 2 3 4 5 6 7 8
B"CD2$6@"#(,&-$,'3(
(
?<"(,.>(>-6"2($'(+.&(-(ED2$6@"#(,&-$,*(,<"(1.,,./(+.&(-6(FD2$6@"#(,&-$,8(
?<$6%'(7-6(%",(>&",,0(<-&#(,.($6,"&>&",($+(/52,$>2"(%"6"'(.&(G5-6,$,-,$;"("++"7,'(-&"($6;.2"#(D(<"&"*(+.&("C-/>2"*($'(-(G5-6,$,-,$;"(,&-$,8(H+($,(:"&"(#.512"(&"7"''$;"*(.620(,<"(,:.(12-7@D'<-#"#($6#$;$#5-2'(:.52#('<.:(,<"(><"6.,0>"*(15,(,<$'($'(<-&#(,.(#$',$6%5$'<(+&./(-5,.'./-2(&"7"''$;"(562"''(0.5(<-;"('-/>2"#(-(;"&0(2-&%"(65/1"&(.+(>"#$%&""'8(
?
?
?
?
I
II
III
IV
V
I
II
III
IV
V
?<5'(0.5('<.52#('""(-60($6<"&$,-67"(<0>.,<"'$'(+&./(-(>"#$%&""(2$@"(,<$'(-,(2"-',($6$,$-220(-'(I5',(,<-,(D(-(<0>.,<"'$'8
(
96.,<"&(,0>"(.+(>"#$%&""($'(.1'"&;"#(:$,<(70,.>2-'/$7(,&-$,'*(:<$7<(>-''(,<&.5%<(/-,"&6-2(2$6"-%"'3(
(
AaBB AABb
AaBbAaBb AaBB
AaBb aaBb
AaBb aabb
AaBb
AaBb
AaBb AaBb
Aabb AaBB
AaBB
aaBb
aaBb
AABB
AABB AaBb
AaBb
aabb
Multifactorial (2 gene in this case) quantitative.
AaBBAABB
AaBB AABbAABB
AaBb
aaBb AaBb AaBbAaBb aaBb
AABB
AaBb
AABB
AABB
Shading indicates strength of phenotype
?
I
II
III
IV
V
J-,"&6-2(K++"7,(!"#$%&""'3((
C"0&(#"-$&,,&!0$2&#&+$9.(7$+*!3$03"0$03&$83&#.0)8&$.,$.,,+8(1#2$1+$/&0&(61#&/$%)$03&$!"#$%&'"$.,$03&$6.03&(4$N0$6")$(&61#/$.,$03&$C&/&"$&,,&!0$,(.6$03&$+&2(&2"01.#$/1+0.(01.#$+&!01.#K$%*0$03&(&$10$9"+$+*('1'"-$.,$.,,+8(1#2$03"0$9"+$!.#/101.#&/$%)$"#$(#%")*+%($#$%&09&&#$6"0&(#"-$"#/$>)2.01!$2&#.0)8&4$G&(&$10$1+$8*(&-)$03&$6.03&(O+$2&#.0)8&$03"0$!.#/101.#+$.,,+8(1#2$83&#.0)8&4$N0$!.*-/$-..7$-17&$031+A$
(
@3&$!.*#0&(1#0*101'&$031#2$3&(&$1+$03"0$03.*23$03&$9310&$"--&-&$H?I$1+$/.61#"#0K$"$6"01#2$%&09&&#$%-"!7$"#/$9310&$!"#$+01--$)1&-/$"--$%-"!7$.,,+8(1#24$$
@3&$"%.'&$$1+$"!0*"--)$"$(&"-$&;"68-&$:$03&$/1(&!01.#$.,$!.1-1#2$.,$+#"1-$+3&--+$1#3&(10+$1#$031+$9")4$
$
aa AA
WHITE (A) is dominant!!
I
II
III
IV
V
(
B,&-6%"(L-6#(56,&5',:.&,<0M(>"#$%&""'3$=&-.9$1+$"$6&++&/:*8$H%*0$(&"-I$8&/12(&&A$N0$1+$03"0$.,$03&$,"6.*+$D*&&#$P-&.8"0("$.,$Q2)80$HP-&.8"0("$RNNI4$S.0&$"--$03&$!.#+"#2*1#.*+$6"((1"2&+T$U.6&$.,$03&$V0.-&61&+$6")$3"'&$+*,,&(&/$,(.6$W("'&X+$Y1+&"+&$.($"#.03&($3&(10"%-&$03)(.1/$!.#/101.#$03"0$!"*+&+$8(.0(*/1#2$&)&+$"#/$"$+9.--&#$#&!74$53"0$3"88&#&/$",0&($V0.-&6)$RZ$5"+$3&$#.0$03&$/"/$.,$V0.-&6)$RNNNK$.($/1/$10$+&2(&2"0&$"9")Z$@3&$8(.%-&6$9103$"#!1�$(.)"-$8&/12(&&+$1+$9&$!"#O0$%&$+*(&$.,$8"(�"2&4$U.$93&#$"$/.61#"#0$0("10$2&0+$8"++&/$/.9#$03(.*23$"$8&/12(&&$-17&$031+K$9&$*#,.(0*#"0&-)$!"##.0$168*0&$2&#.0)8&+$&;"!0-)4$=*0$9&$!"#$+")$03"0$+.6&031#2$3"88&#&/$:$&103&($/1,,&(�$8"(�"2&$.($+&2(&2"01.#$03"0$&-161#"0&/$93"0$+&&6+$0.$%&$"$/.61#"#0$0("10$,(.6$031+$8&/12(&&4$$
$
Ptolemy III
Arsinoe II
Ptolemy I Berenice I
Arsinoe I
Ptolemy II
Berenice II
Ptolemy IVArsinoe III
Cleopatra I Ptolemy V
Ptolemy VI Cleopatra II
Cleopatra III
Ptolemy VIII
Ptolemy IXCleopatra IV
Ptolemy XII
Ptolemy X
Ptolemy XIIIBerenice IV Cleopatra VII Ptolemy XIVArsinoe IV
Ptolemy II (L)Berenice I (R)
Ptolemy III
Arsinoe III
Cleopatra V
? ?
?
?
?
?
?
?
Protruding eyesNeck masses
Phenotype unknown
Likely
